A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study

被引:29
作者
Saijo, H
Nakayama, H
Ezoe, T
Araki, K
Sone, S
Hamaguchi, H
Suzuki, H
Shiroma, N
Kanazawa, N
Tsujino, S
Hirayama, Y
Arima, M
机构
[1] Tokyo Metropolitan Higashiyamoto Med Ctr Severly, Tokyo 2070022, Japan
[2] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Inherited Metab Dis, Tokyo 1878502, Japan
关键词
leukoencephalopathy; megalencephalic leukoencephalopathy with subcortical cysts; mutation; MLC1; gene;
D O I
10.1016/S0387-7604(03)00006-8
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, deterioration of motor function with ataxia, spasticity and mental decline. It has been revealed that the mutations in the gene, KIAA0027, were responsible for MLC and the gene was renamed subsequently 'MLCl'. A 41-year-old Japanese male with MLC, in whom a homozygous missense mutation, TCG to TTG at codon 93 resulting in S93L, was detected in the MLCl gene, was described. MRI revealed marked cerebral atrophy and enlargement of the ventricular system. The subject's motor function had severely deteriorated, while his cognitive function had maintained at the level of a 2-year-old for the past 10 years. The mutation in the MLCl gene of the patient is considered to be a common mutation responsible for MLC in Japanese patients because the same mutation had been detected in two other Japanese patients with MLC. (C) 2003 Elsevier Science B.V. All rights reserved.
引用
收藏
页码:362 / 366
页数:5
相关论文
共 10 条
[1]   NORMAL MATURATION OF THE NEONATAL AND INFANT BRAIN - MR IMAGING AT 1.5 T [J].
BARKOVICH, AJ ;
KJOS, BO ;
JACKSON, DE ;
NORMAN, D .
RADIOLOGY, 1988, 166 (01) :173-180
[2]   Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients [J].
Ben-Zeev, B ;
Gross, V ;
Kushnir, T ;
Shalev, R ;
Hoffman, C ;
Shinar, Y ;
Pras, E ;
Brand, N .
JOURNAL OF CHILD NEUROLOGY, 2001, 16 (02) :93-99
[3]   A CASE OF CANAVAN DISEASE - THE 1ST BIOCHEMICALLY PROVEN CASE IN A JAPANESE GIRL [J].
HAMAGUCHI, H ;
NIHEI, K ;
NAKAMOTO, N ;
EZOE, T ;
NAITO, H ;
HARA, M ;
YOKOTA, K ;
INOUE, Y ;
MATSUMOTO, I .
BRAIN & DEVELOPMENT, 1993, 15 (05) :367-371
[4]   Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy [J].
Koeda, T ;
Takeshita, K .
BRAIN & DEVELOPMENT, 1998, 20 (04) :245-249
[5]   Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts [J].
Leegwater, PAJ ;
Yuan, BQ ;
van der Steen, J ;
Mulders, J ;
Könst, AAM ;
Boor, PKI ;
Mejaski-Bosnjak, V ;
van der Maarel, S ;
Frants, RR ;
Oudejans, CBM ;
Schutgens, RBH ;
Pronk, JC ;
van der Knaap, MS .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (04) :831-838
[6]   Vacuolating leukoencephalopathy with subcortical cysts with late onset athetotic movements [J].
Takanashi, J ;
Sugita, K ;
Kohno, Y .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1999, 165 (01) :90-93
[7]   Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases [J].
Topcu, M ;
Saatci, I ;
Topcuoglu, MA ;
Kose, G ;
Kunak, B .
BRAIN & DEVELOPMENT, 1998, 20 (03) :142-153
[8]  
van der Knaap MS, 2001, AM J NEURORADIOL, V22, P541
[9]   Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course [J].
vanderKnaap, MS ;
Barth, PG ;
Vrensen, GFJM ;
Valk, J .
ACTA NEUROPATHOLOGICA, 1996, 92 (02) :206-212
[10]   LEUKOENCEPHALOPATHY WITH SWELLING AND A DISCREPANTLY MILD CLINICAL COURSE IN 8 CHILDREN [J].
VANDERKNAAP, MS ;
BARTH, PG ;
STROINK, H ;
VANNIEUWENHUIZEN, O ;
ARTS, WFM ;
HOOGENRAAD, F ;
VALK, J .
ANNALS OF NEUROLOGY, 1995, 37 (03) :324-334